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Understanding the contribution of synonymous mutations to human disease.
Sauna ZE, Kimchi-Sarfaty C. Sauna ZE, et al. Nat Rev Genet. 2011 Aug 31;12(10):683-91. doi: 10.1038/nrg3051. Nat Rev Genet. 2011. PMID: 21878961 Review.
Silent polymorphisms speak: how they affect pharmacogenomics and the treatment of cancer.
Sauna ZE, Kimchi-Sarfaty C, Ambudkar SV, Gottesman MM. Sauna ZE, et al. Cancer Res. 2007 Oct 15;67(20):9609-12. doi: 10.1158/0008-5472.CAN-07-2377. Cancer Res. 2007. PMID: 17942888 Review.
Silent (synonymous) SNPs: should we care about them?
Hunt R, Sauna ZE, Ambudkar SV, Gottesman MM, Kimchi-Sarfaty C. Hunt R, et al. Methods Mol Biol. 2009;578:23-39. doi: 10.1007/978-1-60327-411-1_2. Methods Mol Biol. 2009. PMID: 19768585 Review.
SNPs in ADAMTS13.
Tseng SC, Kimchi-Sarfaty C. Tseng SC, et al. Pharmacogenomics. 2011 Aug;12(8):1147-60. doi: 10.2217/pgs.11.66. Pharmacogenomics. 2011. PMID: 21843064 Review.
Plasma derivatives: new products and new approaches.
Sauna ZE, Pandey GS, Jain N, Mahmood I, Kimchi-Sarfaty C, Golding B. Sauna ZE, et al. Biologicals. 2012 May;40(3):191-5. doi: 10.1016/j.biologicals.2011.11.003. Epub 2012 Jan 11. Biologicals. 2012. PMID: 22239993 Review.
Analysis of F9 point mutations and their correlation to severity of haemophilia B disease.
Hamasaki-Katagiri N, Salari R, Simhadri VL, Tseng SC, Needlman E, Edwards NC, Sauna ZE, Grigoryan V, Komar AA, Przytycka TM, Kimchi-Sarfaty C. Hamasaki-Katagiri N, et al. Haemophilia. 2012 Nov;18(6):933-40. doi: 10.1111/j.1365-2516.2012.02848.x. Epub 2012 May 29. Haemophilia. 2012. PMID: 22639855
Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches.
Edwards NC, Hing ZA, Perry A, Blaisdell A, Kopelman DB, Fathke R, Plum W, Newell J, Allen CE, S G, Shapiro A, Okunji C, Kosti I, Shomron N, Grigoryan V, Przytycka TM, Sauna ZE, Salari R, Mandel-Gutfreund Y, Komar AA, Kimchi-Sarfaty C. Edwards NC, et al. PLoS One. 2012;7(6):e38864. doi: 10.1371/journal.pone.0038864. Epub 2012 Jun 29. PLoS One. 2012. PMID: 22768050 Free PMC article.
Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura.
Hing ZA, Schiller T, Wu A, Hamasaki-Katagiri N, Struble EB, Russek-Cohen E, Kimchi-Sarfaty C. Hing ZA, et al. Br J Haematol. 2013 Mar;160(6):825-37. doi: 10.1111/bjh.12214. Epub 2013 Jan 24. Br J Haematol. 2013. PMID: 23346910
Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma.
Gartner JJ, Parker SC, Prickett TD, Dutton-Regester K, Stitzel ML, Lin JC, Davis S, Simhadri VL, Jha S, Katagiri N, Gotea V, Teer JK, Wei X, Morken MA, Bhanot UK; NISC Comparative Sequencing Program, Chen G, Elnitski LL, Davies MA, Gershenwald JE, Carter H, Karchin R, Robinson W, Robinson S, Rosenberg SA, Collins FS, Parmigiani G, Komar AA, Kimchi-Sarfaty C, Hayward NK, Margulies EH, Samuels Y. Gartner JJ, et al. Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13481-6. doi: 10.1073/pnas.1304227110. Epub 2013 Jul 30. Proc Natl Acad Sci U S A. 2013. PMID: 23901115 Free PMC article.
A gene-specific method for predicting hemophilia-causing point mutations.
Hamasaki-Katagiri N, Salari R, Wu A, Qi Y, Schiller T, Filiberto AC, Schisterman EF, Komar AA, Przytycka TM, Kimchi-Sarfaty C. Hamasaki-Katagiri N, et al. J Mol Biol. 2013 Nov 1;425(21):4023-33. doi: 10.1016/j.jmb.2013.07.037. Epub 2013 Aug 3. J Mol Biol. 2013. PMID: 23920358 Free PMC article.
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